Incontinentia pigmenti - British Journal of Ophthalmology

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Fig. 8 Case 6. Fluorescein angiogram ofright eye: in the Fig. 10 Case 6. Fluorescein angiogram ofleft eye. Below
temporal periphery a circular alteration ofthe pigment the large atrophic area ofthe pigment epithelium are small
epithelium and choriocapillaris is present. alterations ofthe retinal vascularisation.
CASE 6
Aunt of the proband, 34 years old. Vesicular lesions
and hyperpigmentation of the skin occurred two days
after birth.
The right eye was exotropic. The visual acuity was
0-2 in the right eye with -3 75 sph and 0-8 in the left
eye with -8 sph. The corneas and lenses were both
Fig. 9 Case 6. Fundus ofleft eye showing enormous
atrophy ofthe pigment epithelium in the temporal quadrant.
clear. Temporally to the macula a clearly defined
change in the pigment epithelium and choriocapillaris
with sharp edges was present (Fig. 7). In the temporal
periphery another circular alteration of the pigment
epithelium and choriocapillaris was visible (Fig. 8).
This zone also showed mild anomalies of the retinal
vascularisation. In the left eye it was possible to see
a large region of atrophy of the pigment epithelium
with sharp edges; it involved the whole temporal
quadrant (Fig. 9). Just below this large area another
small alteration of the retinal vascularisation was
seen (Fig. 10). Apart from these changes, two other
small atrophic patches were present. Toxoplasmosis
was excluded by blood examinations. She had alopecia
and abnormal teeth. The lateral incisors were
missing (Fig. 11).
CASE 7
Daughter of case 6, 11 years old. Incontinentia
pigmenti from birth.
Tilting of the head and strabismus in the right
eye were noted at the age of 3 months. Cataract
with retinal detachment were also diagnosed in this
eye. Ophthalmological examination showed a blind
microphthalmic right eye with cataract (Fig. 12).
Ultrasonography revealed the presence of retinal
detachment with dense membranes in the vitreous.
Visual acuity was 1-0 with -1-50 sph in the left eye.
In this eye the cornea and lens were both clear.
The ocular fundus showed only a -small patch of
pigment epithelium atrophy without alteration of the